title: Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
authors.affiliation: Genetics Unit, Hospital Universitari La Fe, Valencia, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Bort
authors.forename: T
authors.initials: T
authors.lastname: Sevilla
authors.forename: J
authors.initials: J
authors.lastname: García-Planells
authors.forename: D
authors.initials: D
authors.lastname: Blesa
authors.forename: N
authors.initials: N
authors.lastname: Paricio
authors.forename: J J
authors.initials: JJ
authors.lastname: Vílchez
authors.forename: F
authors.initials: F
authors.lastname: Prieto
authors.forename: F
authors.initials: F
authors.lastname: Palau
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA